Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.040 | 6 | 35685660 | intron variant | G/A | snv | 0.77 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.790 | 0.120 | 17 | 45802681 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.882 | 0.280 | 9 | 6248035 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 7 | 30655345 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 1.000 | 0.040 | 7 | 82759398 | intron variant | T/G | snv | 0.61 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2011 | 2018 | |||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.020 | 1.000 | 2 | 2019 | 2019 | |||
|
4 | 0.882 | 0.080 | 11 | 113420866 | intron variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
15 | 0.763 | 0.160 | 11 | 18026269 | intron variant | G/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 13 | 46856141 | non coding transcript exon variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 1.000 | 0.080 | 4 | 46332192 | intron variant | A/G | snv | 0.46 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.851 | 0.080 | 4 | 46312576 | synonymous variant | T/C | snv | 0.40 | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.925 | 0.040 | 6 | 35633999 | intron variant | A/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
40 | 0.627 | 0.680 | 4 | 153703504 | synonymous variant | T/C | snv | 0.40 | 0.48 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 1.000 | 0.040 | 11 | 18047335 | upstream gene variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 2 | 207643083 | intergenic variant | C/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.030 | 1.000 | 3 | 2008 | 2018 | |||
|
5 | 0.851 | 0.080 | 7 | 30654159 | intron variant | C/T | snv | 0.67 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.080 | 8 | 27578983 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 1.000 | 10 | 2005 | 2018 |